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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPHB2

Variant:p.T75_K76insFs

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EPHB2

NM_017449.5:p.T75_K76insFs

hg38:chr1:22784488 A>AC

Associated Papers

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Kanda A et al.

Human Mutation, 2007

17335001 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."